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Open Access
Peer-reviewed
Research Article
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
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Sathiya N. Manivannan,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Heart Center, Nationwide Children’s Hospital, Columbus, Ohio, United States of America
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Sihem Darouich ,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing
* E-mail: Sihem.Darouich@free.fr (SD); Vidu.Garg@Nationwidechildrens.org (VG)
Affiliation University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Laboratory of Human Genetics, Tunis, Tunisia
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Aida Masmoudi,
Roles Data curation, Formal analysis, Investigation, Methodology, Validation
Affiliation University of Tunis El Manar, Faculty of Medicine of Tunis, Department of Embryo-Fetopathology, Maternity and Neonatology Center, Tunis, Tunisia
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David Gordon,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, Ohio, United States of America
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Gloria Zender,
Roles Data curation
Affiliation Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, United States of America
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Zhe Han,
Roles Supervision, Validation, Writing – review & editing
Affiliation Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, United States of America
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Sara Fitzgerald-Butt,
Roles Data curation
Affiliations Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Heart Center, Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
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Peter White,
Roles Data curation, Formal analysis, Funding acquisition, Supervision, Writing – review & editing
Affiliations Institute for Genomic Medicine at Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
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Kim L. McBride,
Roles Conceptualization, Data curation, Funding acquisition, Supervision, Writing – review & editing
Affiliations Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Heart Center, Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
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Maher Kharrat,
Roles Conceptualization, Data curation, Investigation
Affiliation University of Tunis El Manar, Faculty of Medicine of Tunis, LR99ES10 Laboratory of Human Genetics, Tunis, Tunisia
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Vidu Garg
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – review & editing
* E-mail: Sihem.Darouich@free.fr (SD); Vidu.Garg@Nationwidechildrens.org (VG)
Affiliations Center for Cardiovascular Research, Abigail Wexner Research Institute at Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Heart Center, Nationwide Children’s Hospital, Columbus, Ohio, United States of America, Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America, Department of Molecular Genetics, The Ohio State University, Columbus, Ohio, United States of America
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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
- Sathiya N. Manivannan,
- Sihem Darouich,
- Aida Masmoudi,
- David Gordon,
- Gloria Zender,
- Zhe Han,
- Sara Fitzgerald-Butt,
- Peter White,
- Kim L. McBride,
- Maher Kharrat
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- Published: May 26, 2020
- https://doi.org/10.1371/journal.pgen.1008639
- See the preprint